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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CYP2D6 Gene

protein-coding GIFtS: 71
GCID: GC22M042522

cytochrome P450, family 2, subfamily D, polypeptide 6

(Previous names: cytochrome P450, subfamily IID (debrisoquine, sparteine,...)
(Previous symbols: CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP)

Explore 152 diseases affiliated with
CYP2D6 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cytochrome P450, Family 2, Subfamily D, Polypeptide 6¹ ²		Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc., -Metabolising), Polypeptide 8 Pseudogene 2¹ ²
CYP2DL1¹ ² ³		Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc., -Metabolizing), Polypeptide 6¹ ²
CPD6¹ ² ⁵		Cytochrome P450-DB1² ³
CYP2D¹ ²		Debrisoquine 4-Hydroxylase² ³
CYP2D7AP¹ ²		CYPIID6² ³
CYP2D7BP¹ ²		EC 1.14.14.1³ ⁸
CYP2D7P2¹ ²		P450DB1² ⁵
CYP2D8P2¹ ²		Cytochrome P450 2D6²
P450-DB1¹ ²		Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc., -Metabolizing)-Like 1²
P450C2D¹ ²		Flavoprotein-Linked Monooxygenase²
Cytochrome P450, Family 2, Subfamily D, Polypeptide 7 Pseudogene 2¹ ²		Microsomal Monooxygenase²
Cytochrome P450, Family 2, Subfamily D, Polypeptide 8 Pseudogene 2¹ ²		Xenobiotic Monooxygenase²
Cytochrome P450, Subfamily II (Debrisoquine, Sparteine, Etc., -Metabolising), Polypeptide 7 Pseudogene 2¹ ²

External Ids:	HGNC: 2625¹	Entrez Gene: 1565²	Ensembl: ENSG00000100197⁷	OMIM: 124030⁵	UniProtKB: P10635³

Export aliases for CYP2D6 gene to outside databases

Previous GC identifers: GC22U990011 GC22M039139 GC22M040766 GC22M040768 GC22M040769 GC22M040848 GC22M040849 GC22M040852 GC22M025488

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP2D6:

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are

monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and

other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 20% of

commonly prescribed drugs. Its substrates include debrisoquine, an adrenergic-blocking drug; sparteine and

propafenone, both anti-arrythmic drugs; and amitryptiline, an anti-depressant. The gene is highly polymorphic in the

population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to

metabolize the enzyme's substrates. The gene is located near two cytochrome P450 pseudogenes on chromosome 22q13.1.

Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (provided by

RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CP2D6_HUMAN, P10635

Function: Responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It is involved in

the metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants

Gene Wiki entry for CYP2D6

PharmGKB "VIP" summary for CYP2D6

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.1 NT_011520.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CYP2D6 gene promoter:
PPAR-gamma1 PPAR-gamma2 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): CYP2D6 promoter sequence

Search SABiosciences Chromatin IP Primers for CYP2D6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP2D6

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1 Ensembl cytogenetic band: 22q13.2 HGNC cytogenetic band: 22q13.1

CYP2D6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP2D6 gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M042522: view genomic region (about GC identifiers)

Start:	42,522,501 bp from pter	End:	42,526,908 bp from pter
Size:	4,408 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CP2D6_HUMAN, P10635 (See protein sequence)

Recommended Name: Cytochrome P450 2D6

Size: 497 amino acids; 55769 Da

Cofactor: Heme group

Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral

membrane protein

4 PDB 3D structures from and Proteopedia for CYP2D6:

2F9Q (3D)

3QM4 (3D)

3TBG (3D)

3TDA (3D)

Secondary accessions: Q16752 Q2XND6 Q2XND7 Q2XNE0 Q6B012 Q6NXU8

Alternative splicing: 2 isoforms: P10635-1 P10635-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP2D6: NX_P10635

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P10635

4/20 DME Specific Peptides for CYP2D6 (P10635) (see all 20)

VTTSTTL

EAFLPFS

LSSVLKD

NLSSVLK

CYP2D6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000097.3 NP_001020332.2

ENSEMBL proteins:

ENSP00000353241 ENSP00000353820 ENSP00000351927 ENSP00000374620

Reactome Protein details: P10635
Human Recombinant Protein Products:

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	Novus Biologicals CYP2D6 Protein Novus Biologicals CYP2D6 Lysates
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	ProSpec Recombinant Protein for CYP2D6
	Uscn Proteins for CYP2D6

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005739	mitochondrion	IDA	19438707
GO:0005783	endoplasmic reticulum	TAS	19438707
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--

CYP2D6 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for CYP2D6

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CYP2D6 for domains About GeneDecksing

4 InterPro domains/families:

IPR001128 Cyt_P450

IPR017972 Cyt_P450_CS

IPR002401 Cyt_P450_E_grp-I

IPR008069 Cyt_P450_E_grp-I_CYP2D-like

Graphical View of Domain Structure for InterPro Entry P10635

ProtoNet protein and cluster: P10635

2 Blocks protein families:

IPB002401 E-class P450 group I signature

IPB008069 CYP2D P450 family signature

UniProtKB/Swiss-Prot: CP2D6_HUMAN, P10635

Similarity: Belongs to the cytochrome P450 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CP2D6_HUMAN, P10635

Function: Responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It is involved in

the metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants

Catalytic activity: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O

Induction: By pregnancy

Enzyme Number (IUBMB): EC 1.14.14.1¹ ²

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Gene Editing
Products:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP2D6

Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004497	monooxygenase activity	IDA	15327587
GO:0004509	steroid 21-monooxygenase activity	--	--
GO:0005506	iron ion binding	IEA	--
GO:0008144	drug binding	IDA	19448135
GO:0008391	arachidonic acid monooxygenase activity	--	--

CYP2D6 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for CYP2D6:

Increased gamma-H2AX phosphory

Synthetic lethal with c-Myc af

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/16 super-pathways (see all 16) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Tamoxifen metabolism

Tamoxifen metabolism	1.00	Estradiol metabolism	0.52
Tamoxifen Pathway, Pharmacokinetics	0.68	Benzodiazepine Pathway, Pharmacokinetics	0.30
Estradiol metabolism	0.52

Acetaminophen Pathway, Pharmacokinetics

	Pathway_PA165986194 -need delete	1.00			Acetaminophen metabolism	0.43
	Acetaminophen Pathway, Pharmacokinetics	1.00			Acetaminophen metabolism	0.43

Doxepin Pathway, Pharmacokinetics

	Doxepin Pathway, Pharmacokinetics	1.00			Clomipramine Pathway, Pharmacokinetics	0.80
	Imipramine/Desipramine Pathway, Pharmacokinetics	0.80			Celecoxib Pathway, Pharmacokinetics	0.43

Cytochrome P450 - arranged by substrate type

	Cytochrome P450 - arranged by substrate type	1.00			cytochrome P450	0.73
	Phase 1 - Functionalization of compounds	0.74

Xenobiotics

	Xenobiotics	1.00			Phenytoin Pathway, Pharmacokinetics	0.42
	CYP2E1 reactions	0.65

Pathway sources
See GeneCards unified pathways
Show all pathways

4 EMD Millipore Pathways for CYP2D6

	Estradiol metabolism
	NAD metabolism
	Retinol metabolism
	Acetaminophen metabolism

4 GeneGo (Thomson Reuters) Pathways for CYP2D6

	Estradiol metabolism
	NAD metabolism
	Retinol metabolism
	Acetaminophen metabolism

5 BioSystems Pathways for CYP2D6

	Codeine and morphine metabolism
	cytochrome P450
	Tamoxifen metabolism
	Fatty Acid Omega Oxidation
	metapathway biotransformation

5/6 Reactome Pathways for CYP2D6 (see all 6)

	Cytochrome P450 - arranged by substrate type
	Xenobiotics
	Metabolism
	Biological oxidations
	Phase 1 - Functionalization of compounds

5/20 PharmGKB Pathways for CYP2D6 (see all 20)

	Acetaminophen Pathway, Pharmacokinetics
	Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics
	Benzodiazepine Pathway, Pharmacokinetics
	Celecoxib Pathway, Pharmacokinetics
	Citalopram Pathway, Pharmacokinetics

1 Kegg Pathway (Kegg details for CYP2D6):

Drug metabolism - cytochrome P450

CYP2D6 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CYP2D6

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/35 Interacting proteins for CYP2D6 (P10635³ ENSP00000353820⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 35)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAGEB4	O15481³	I2D: score=1
SAT1	P21673³	I2D: score=1
CYP2C18	ENSP00000285979⁴	STRING: ENSP00000285979
CYP2C19	ENSP00000360372⁴	STRING: ENSP00000360372
CYP2C8	ENSP00000360317⁴	STRING: ENSP00000360317

About this table

Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006805	xenobiotic metabolic process	TAS	19438707
GO:0008202	steroid metabolic process	IMP	18356043
GO:0009804	coumarin metabolic process	IDA	19438707
GO:0009820	alkaloid metabolic process	IDA	19651758
GO:0009822	alkaloid catabolic process	IDA	15039299

CYP2D6 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CYP2D6 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CYP2D6

10/70 HMDB Compounds for CYP2D6 (see all 70) About this table

Compound	Synonyms	CAS #	PubMed Ids
10-HETE	10-hydroxyeicosa-all-cis-5,8,11,14-tetraenoate (see all 2)	167697-52-1	--
11,12,15-THETA	11,12,15-Trihydroxyicosatrienoic acid (see all 5)	--	--
11,12-Epoxyeicosatrienoic acid	10-(3-(2-octenyl)oxiranyl)-5,8-Decadienoic acid (see all 15)	81276-02-0	--
11,14,15-THETA	(5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid (see all 8)	--	--
11H-14,15-EETA	14,15-Ep-11-HETrE (see all 11)	219535-29-2	--
11beta-Hydroxytestosterone	11beta,17beta-dihydroxyandrost-4-en-3-one	1816-85-9	--
12,13-EpOME	Vernolic acid (see all 12)	--	--
13-HETE	13-hydroxy-5Z,8Z,11Z,14Z-eicosatetraenoate (see all 2)	151910-72-4	--
14,15-Epoxy-5,8,11-eicosatrienoic acid	(5Z,8Z,11Z)-14,15-Epoxyicosa-5.8.11-trienoic acid (see all 11)	81276-03-1	--
15(S)-HPETE	(5Z,8Z,11Z,13E)-(15S)-15-Hydroperoxyicosa-5,8,11,13-tetraenoate (see all 8)	70981-96-3	--

10/289 DrugBank Compounds for CYP2D6 (see all 289) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Tamoxifen	Tamoxifen Citrate (see all 5)	10540-29-1	enzyme	substrate inhibitor	12124303 1500011 15159443 1500055 20425602 19934256 19515014
Amitriptyline	Amitriprolidine (see all 7)	50-48-6	enzyme	substrate inhibitor	11259560 9131945 8968657 18359012 19934256 19515014
Fluoxetine	Fluoxetina [INN-Spanish] (see all 5)	54910-89-3	enzyme	substrate inhibitor	18537577 10774624 16910628 8968657 19934256 19515014
Perphenazine	Chlorperphenazine (see all 8)	58-39-9	enzyme	substrate inhibitor	9333110 16910628 10688273 19934256 9616188 8689810
Risperidone	risperdone (see all 3)	106266-06-2	enzyme	substrate inhibitor	19902987 19817501 10048600 11560868 19934256 19910717
Chlorpromazine	--	50-53-3	enzyme	substrate inhibitor	16910628 10688273 19934256 10901285 11996015
Dextromethorphan	D-Methorphan (see all 20)	125-71-3	enzyme	substrate inhibitor	19817501 12401364 11602530 19934256 19515014
Doxepin	Doxepin Hcl (see all 5)	1668-19-5	enzyme	substrate inhibitor	15168101 11037801 12360109 19934256 15520506
Nortriptyline	--	72-69-5	enzyme	substrate inhibitor	10354960 18359012 19934256 9193876 19515014
Sertraline	Sertralina [Spanish] (see all 3)	79617-96-2	enzyme	substrate inhibitor	12143142 16910628 15547048 8968657 19934256

10/156 Novoseek chemical compound relationships for CYP2D6 gene (see all 156) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
debrisoquine	96.9	338	10752638 (5), 11723233 (5), 9316857 (4), 1978565 (3) (see all 99)
bufuralol	93.4	56	15183128 (3), 16563352 (3), 11266079 (3), 12167561 (2) (see all 36)
sparteine	91.2	56	8351162 (3), 1531950 (2), 10634134 (2), 11549206 (2) (see all 41)
quinidine	88.3	116	10702886 (6), 7575645 (5), 7593709 (5), 8100167 (3) (see all 64)
dextrorphan	84.7	40	18543297 (5), 7593709 (3), 10942192 (3), 10774635 (2) (see all 15)
3-methoxymorphinan	83.7	8	8873685 (2), 10942192 (2), 7826826 (1), 10774635 (1)
furafylline	81.5	1	9431831 (1)
mephenytoin	81.3	28	10424320 (2), 8737964 (2), 10774635 (2), 18979093 (1) (see all 19)
bunitrolol	80.8	10	7663534 (3), 15618721 (1), 7951142 (1), 9914647 (1) (see all 5)
1'-hydroxybufuralol	78	1	12167561 (1)

10/48 PharmGKB related drug/compound annotations for CYP2D6 gene (see all 48)

Drug/compound	PharmGKB Annotation
acetaminophen	DL
amitriptyline	DG DL
aripiprazole	DG DL
atomoxetine	DG DL
carvedilol	DG DL
cevimeline	DL
citalopram	DL
clomipramine	DG DL
clozapine	DG DL
codeine	DG DL

About this table

Search CenterWatch for drugs/clinical trials and news about CYP2D6 / CP2D6

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CYP2D6 gene (2 alternative transcripts):

NM_000106.5 NM_001025161.2

Unigene Clusters for CYP2D6:

Cytochrome P450, family 2, subfamily D, polypeptide 6

Hs.333497 [show with all ESTs], Hs.648256 [show with all ESTs]

Unigene Representative Sequences: AY220845, AB209492

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000360124(uc010gyu.3) ENST00000360608(uc003bce.3 uc003bcf.3)

ENST00000488442 ENST00000359033 ENST00000389970

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Additional cDNA sequence:

AB209492.1 AK308211.1 AK309600.1 AY663390.1 BC066877.1 BC067432.1 BC075023.2 BC075024.2

BC106757.1 BC106758.1 BC126857.1 BC126858.1 CR456430.1 M20403.1 M24499.1 X08006.1

X16865.1

19 DOTS entries:

DT.456039 DT.75148866 DT.101983084 DT.100861542 DT.91734821 DT.120667070 DT.120667088 DT.95345407

DT.99937608 DT.97806204 DT.100797188 DT.120667041 DT.91742565 DT.100797187 DT.40200615 DT.100797190

DT.100797191 DT.120667093 DT.91690659

24/107 AceView cDNA sequences (see all 107):

AI581683 AV645915 CB137789 BC067432 NM_000106 CB144729 BC066877 CB134922

CR456430 CB122244 BC075023 CB116939 CK032846 BX422591 AV684718 BV188663

AV651120 CK130222 CB124853 BX422592 AV689088 M24499 BX430832 CK130224

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for CYP2D6 (see all 13) About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	·	3c	^	4	^	5a	·	5b	^	6	^	7a	·	7b	^	8	^	9a	·	9b	·	9c	^	10	^	11	^	12	^	13a	·	13b	·	13c	^	14	^	15	^	16	^	17a	·
SP1:																																							-
SP2:																																							-						-
SP3:
SP4:																																													-						-
SP5:																					-

ExUns:	17b	^	18	^	19	^	20a	·	20b	^	21
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for CYP2D6

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CYP2D6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

CYP2D6 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Mature Hepatocytes

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CYP2D6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYP2D6

SOURCE GeneReport for Unigene clusters: Hs.333497 Hs.648256

SABiosciences Expression via Pathway-Focused PCR Arrays including CYP2D6 (see all 6):

Nephrotoxicity in human mouse rat

Cancer Drug Resistance in human mouse rat

Drug Metabolism: Phase I Enzymes in human mouse rat

Cellular Stress Responses in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CYP2D6 gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F1NJG4_CHICK⁶	Uncharacterized protein	54(a)	1 ↔ 1	1(51291826-51300399)
lizard (Anolis carolinensis)	Reptilia	CYP2D6⁶	--	48(a)	1 ↔ 1	5(27228365-27244663)
fruit fly (Drosophila melanogaster)	Insecta	Cyp18a1³	steroid biosynthesis cytochrome P450	34(a) (best of 4)		17D1 --
worm (Caenorhabditis elegans)	Secernentea	K09A11.4³	cytochrome p450	36(a) (best of 15)		X(13307102-13309423) --

ENSEMBL Gene Tree for CYP2D6 (if available)
TreeFam Gene Tree for CYP2D6 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CYP2D6 gene

CYP2W1² CYP2C8² CYP2A6² CYP2F1² CYP2C19² CYP2B6² CYP2A7² CYP2R1²

CYP2U1² CYP2J2² CYP2E1² CYP2S1² CYP2C9² CYP2B7P1² CYP2A13² CYP2C18²

18/32 SIMAP similar genes for CYP2D6 using alignment to 39 protein entries: CP2D6_HUMAN (see all proteins) (see all similar genes):

CYP2D7P1 CYP2G1P CYP2R1 CYP2J2 CYP2U1 CYP2B6

CYP2A6 CYP2A13 CYP2A7 CYP2C9 CYP2E1 CYP 2C

CYP2B CYP2C19 CYP2B7 CYP2A6V2 CYP2S1 CYP2C8

CYP2D6 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for CYP2D6
PGOHUM00000259332 PGOHUM00000237892

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: CP2D6_HUMAN, P10635

Polymorphism: Genetic variations in CYP2D6 are the cause of poor drug metabolism CYP2D6-related [MIM:608902]. The

CYP2D6 gene is highly polymorphic. CYP2D6 activity ranges widely within a population comprising ultrarapid (UM),

extensive (EM), intermediate (IM) and poor (PM) metabolizer phenotypes. UM and PM are those most at risk for treatment

failure or dose-dependent drug toxicity, respectively. Of the Caucasian populations of Europe and North America,

5%-10% are of the PM phenotype and are unable to metabolize the antihypersensitive drug debrisoquine and numerous

other drugs

Polymorphism: Allele CYP2D6*7 was also known as CYP2D6E, allele CYP2D6*9 as CYP2D6C, allele CYP2D6*10 as CYP2D6J,

allele CYP2D6*17 as CYP2D6Z

Polymorphism: Isozymes CYP2D6.45 (Lys-155, Cys-296 and Thr-486) and CYP2D6.46 (His-26, Lys-155, Cys-296 and Thr-486)

are functional

SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs141009491^1,2	C	drug-response	42523633(+)	`GGACAC/G/TGGCCT`	6	H P R	mis¹		1		NA	4534
rs5030865^1,2	C,F,	pathogenic	42525035(+)	`CCCACA/C/G/T GGAGT`	5	R G *	mis¹ stg¹ int¹		4		NS NA	102
rs1080998^1,2	C	--	25492585(-)	`TCCCCT/CACCAG`	1	--	int¹		1		NA	2
rs4078248^1,2	C,F,,	--	42522027(+)	`GGGAAC/TGTTCT`	2	--	int¹		6		NS WA CSA	218
rs79347391^1,2	C,	--	42522028(-)	`CAGAAC/TGTTCC`	2	--	int¹		3		NS	96
rs35028622^1,2	C,F,	--	42522074(+)	`CTGGCC/ATATAG`	2	--	int¹		12		NA NS WA EA	466
rs77827855^1,2	C,	--	42522079(-)	`GGGAGC/TTATAG`	2	--	int¹		3		NS	96
rs4078249^1,2	C,F,	--	42522084(+)	`GCTCCC/TTGACG`	2	--	int¹		6		NS WA CSA	218
rs78340630^1,2	C,F,	--	42522137(-)	`TCACAACA/-GTCAC`	2	--	int¹		4		NS CSA	98
rs201339893^1,2		--	42522139(+)	`GACTG-/TTGATG`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CYP2D6 (42522501 - 42526908 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for CYP2D6
8 CNVs: 36034 44072 62008 73828 7350 22824 73826 73827
Human Gene Mutation Database (HGMD): CYP2D6

Locus Specific Mutation Databases (LSDB): CYP2D6

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP2D6

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CYP2D6 for disorders           About GeneDecksing

OMIM gene information: 124030
OMIM disorders: 608902
20/152 diseases for CYP2D6 (see all 152):    About MalaCards

open-angle glaucoma attention deficit hyperactivity disorder primary open angle glaucoma sudden infant death syndrome

drug-induced hepatitis neuroleptic malignant syndrome debrisoquine sensitivity codeine sensitivity

multiple chemical sensitivity systolic heart failure oral lichen planus growth hormone deficiency

multiple system atrophy cholesterol non-hodgkin lymphoma squamous cell carcinoma

10 diseases from the University of Copenhagen DISEASES database for CYP2D6:

Autoimmune hepatitis Schizophrenia Breast cancer Parkinson's disease

Neuroleptic malignant syndrome Pain agnosia Liver disease Lung cancer

Schizoaffective disorder Hepatitis C

10/71 Novoseek disease relationships for CYP2D6 gene (see all 71) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hepatitis autoimmune	71.3	35	16037945 (2), 9719237 (2), 15747502 (2), 10540193 (2) (see all 23)
neuroleptic malignant syndrome	47	13	9323326 (4), 9892857 (1), 11204351 (1), 16048458 (1) (see all 6)
parkinson disease	44	57	9189044 (4), 8627546 (2), 18300942 (2), 20364044 (2) (see all 33)
genetic susceptibility	42	4	18300942 (1), 7581482 (1), 20225176 (1), 8035747 (1)
hepatitis c chronic	35.6	11	9672171 (2), 10772926 (2), 8905121 (1), 9328334 (1) (see all 9)
cancer recurrence	34.8	5	20439629 (2), 19690182 (1), 19244106 (1)
schizophrenia	31.3	57	18034624 (5), 16478753 (4), 18520596 (3), 11702057 (3) (see all 22)
lewy body disease	30.5	5	9316701 (1), 10534269 (1), 16337409 (1), 10071712 (1)
breast cancer	26.4	59	20439629 (4), 18445827 (3), 18407954 (3), 18794105 (3) (see all 33)
parkinsonism	25.6	7	9286632 (1), 8937349 (1), 9109653 (1), 8723226 (1) (see all 5)

Genatlas disease: CYP2D6

debrisoquine sensitivity (poor metabolizer,CYP2D6 mutant) including neuroleptic malignant syndrome,putative

susceptibility gene for leukemia

Genetic Association Database (GAD): CYP2D6
Human Genome Epidemiology (HuGE) Navigator: CYP2D6 (571 documents)

Export disorders for CYP2D6 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CYP2D6 gene, integrated from 9 sources (see all 1647):
(articles sorted by number of sources associating them with CYP2D6)

Utopia: connect your pdf to the dynamic
world of online information

A novel mutant variant of the CYP2D6 gene (CYP2D6*17) common in a black African population: association with diminished debrisoquine hydroxylase activity. (PubMed id 8971426)^{1, 2, 4, 9} Masimirembwa C....Ingelman-Sundberg M. (1996)
A missense mutation in exon 6 of the CYP2D6 gene leading to a histidine 324 to proline exchange is associated with the poor metabolizer phenotype of sparteine. (PubMed id 7845481)^{1, 2, 4, 9} Evert B.... Eichelbaum M. (1994)
Contributions of CYP2D6, CYP2C9 and CYP2C19 to the biotransformation of E- and Z-doxepin in healthy volunteers. (PubMed id 12360109)^{1, 4, 7} Kirchheiner J....Brockmoller J. (2002)
Polymorphism of human cytochrome P450 2D6 and its cli nical significance: part II. (PubMed id 19902987)^{1, 7, 9} Zhou S.F. (2009)
Relationship between haloperidol plasma concentration, debrisoquine metabolic ratio, CYP2D6 and CYP2C9 genotypes in psychiatric patients. (PubMed id 15048614)^{1, 4, 9} LLerena A....Dorado P. (2004)
Impact of CYP2D6 genotype on steady-state serum conce ntrations of risperidone and 9-hydroxyrisperidone in patients using long-acting injectable risperidone. (PubMed id 19910717)^{1, 7, 9} Hendset M....Hermann M. (2009)
CYP2D6 genotype, antidepressant use, and tamoxifen metabolism during adjuvant breast cancer treatment. (PubMed id 15632378)^{1, 4, 9} Jin Y....Flockhart D.A. (2005)
Polymorphisms of CYP2C19 and CYP2D6 in Israeli ethnic groups. (PubMed id 15651900)^{1, 4, 9} Luo H.R....Wan Y.J. (2004)
Genetic polymorphism of CYP2D6 and CYP2C19 in east- and southern African populations including psychiatric patients. (PubMed id 11372584)^{1, 4, 9} Dandara C....Hasler J.A. (2001)
G169R mutation diminishes the metabolic activity of CYP2D6 in Chinese. (PubMed id 10064570)^{1, 2, 9} Wang S.L.... Huang J.D. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1565	HGNC: 2625	AceView: CYP2D6andCYP2D7P1andLOC440832	Ensembl:ENSG00000100197	euGenes: HUgn1565
ECgene: CYP2D6	Kegg: 1565	H-InvDB: CYP2D6

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CYP2D6	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CYP2D6	Genetics and Cytogenetics in Oncology and Haematology
Cytochrome P450 Allele Nomenclature Committee	http://www.cypalleles.ki.se/cyp2d6.htm
Wikipedia	http://en.wikipedia.org/wiki/CYP2D6

Intellectual Property for CYP2D6 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CYP2D6 gene:
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GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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CYP2D6 Gene

cytochrome P450, family 2, subfamily D, polypeptide 6

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CYP2D6 (Gene Symbol)
Cytochrome P450, Family 2, Subfamily D, Polypeptide 6
CYP2DL1
CPD6
CYP2D
CYP2D7AP
CYP2D7BP
CYP2D7P2
CYP2D8P2
P450-DB1
P450C2D
Cytochrome P450, Family 2, Subfamily D, Polypeptide 7 Pseudogene 2
Cytochrome P450, Family 2, Subfamily D, Polypeptide 8 Pseudogene 2
Cytochrome P450, Subfamily II (Debrisoquine, Sparteine, Etc., -Metabolising), Polypeptide 7 Pseudogene 2
Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc., -Metabolising), Polypeptide 8 Pseudogene 2
Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc., -Metabolizing), Polypeptide 6
Cytochrome P450-DB1
Debrisoquine 4-Hydroxylase
CYPIID6
EC 1.14.14.1
P450DB1
Cytochrome P450 2D6
Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc., -Metabolizing)-Like 1
Flavoprotein-Linked Monooxygenase
Microsomal Monooxygenase
Xenobiotic Monooxygenase

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CYP2D6 Gene

cytochrome P450, family 2, subfamily D, polypeptide 6

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for CYP2D6 gene

Function
for CYP2D6 gene

Pathways & Interactions
for CYP2D6 gene

Drugs & Compounds
for CYP2D6 gene

Transcripts
for CYP2D6 gene

Expression
for CYP2D6 gene

Orthologs
for CYP2D6 gene

Paralogs
for CYP2D6 gene

Genomic Variants
for CYP2D6 gene

Disorders / Diseases
for CYP2D6 gene

Publications
for CYP2D6 gene

Intellectual Property
for CYP2D6 gene

Products
for CYP2D6 gene